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Journal articles on the topic 'Mutation cognitive'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Malek, Naveed, Rimona S. Weil, Catherine Bresner, et al. "Features of GBA-associated Parkinson’s disease at presentation in the UK Tracking Parkinson’s study." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 7 (2018): 702–9. http://dx.doi.org/10.1136/jnnp-2017-317348.

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ObjectivesTo examine the influence of the glucocerebrosidase (GBA) mutation carrier state on age at onset of Parkinson’s disease (PD), the motor phenotype and cognitive function at baseline assessment in a large cohort of UK patients. We also analysed the prevalence of mood and behavioural problems that may confound the assessment of cognitive function.MethodsWe prospectively recruited patients with PD in the Tracking Parkinson’s study. We fully sequenced the GBA gene in all recently diagnosed patients (≤3.5 years). We examined cognitive (Montreal Cognitive Assessment) and motor (Movement Diso

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Campbell, Alana S., Charlotte C. G. Ho, Merve Atık, et al. "Clinical Deep Phenotyping of ABCA7 Mutation Carriers." Neurology Genetics 8, no. 2 (2022): e655. http://dx.doi.org/10.1212/nxg.0000000000000655.

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Background and ObjectivesPutative loss-of-function (pLOF) ABCA7 variants that increase Alzheimer disease (AD) risk were identified; however, deep phenotypic characterization of these variants in mutation carriers is limited. We aimed to obtain deep clinical phenotypes of ABCA7 pLOF mutation carriers from a large retrospectively reviewed series.MethodsGenotypes were determined for 5,353 individuals evaluated at Mayo Clinic for 6 reported ABCA7 pLOF variants (p.E709fs, p.Trp1214X, p.L1403fs, c.4416+2T>G, p.E1679X, and c.5570+5G>C). Medical records of 100 mutation carriers were reviewed for

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Neidigk, Daniel, Allie Linkous, and Rodney Guttmann. "Identifying genetic factors that increase cognitive reserve: A theoretical approach." Research Ideas and Outcomes 9 (August 11, 2023): e107939. https://doi.org/10.3897/rio.9.e107939.

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Studies have demonstrated that some individuals display pathological hallmarks of Alzheimer's disease (AD) but are not afflicted with cognitive decline. The ability to maintain cognitive function despite the presence of pathology is referred to as cognitive reserve. This project aims to identify the molecular pathways involved in cognitive reserve using <i>Drosophila melanogaster</i> (<i>Drosophila</i>) models of AD. Specifically, a theoretical approach using experimental evolution to drive a population of AD-like <i>Drosophila</i> carrying a tau mutation to develop cognitive reserve is propos

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Almkvist, Ove, та Caroline Graff. "The APOE ε4 Allele Affects Cognitive Functions Differently in Carriers of APP Mutations Compared to Carriers of PSEN1 Mutations in Autosomal-Dominant Alzheimer’s Disease". Genes 12, № 12 (2021): 1954. http://dx.doi.org/10.3390/genes12121954.

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Mounting evidence shows that the APOE ε4 allele interferes with cognition in sporadic Alzheimer’s disease. Less is known about APOE in autosomal-dominant Alzheimer’s disease (adAD). The present study explored the effects on cognition associated with the gene–gene interactions between the APOE gene and the APP and PSEN1 genes in adAD. This study includes mutation carriers (MC) and non-carriers (NC) from adAD families with mutations in APP (n = 28 and n = 25; MC and NC, respectively) and PSEN1 (n = 12 and n = 15; MC and NC, respectively) that represent the complete spectrum of disease: AD dement

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Mukherjee, Soumava, Manoj Roy, Gautam Guha, and Shankar Prasad Saha. "Mutation Location and Cognitive Impairment in Duchenne Muscular Dystrophy." Journal of Neurosciences in Rural Practice 09, no. 03 (2018): 410–13. http://dx.doi.org/10.4103/jnrp.jnrp_426_17.

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ABSTRACT Background: Cognitive impairment is commonly seen in patients with Duchenne muscular dystrophy (DMD). Few studies have shown a correlation between loss of different isoforms of the DMD gene and cognitive impairment. Objective: The objective of the study was to determine whether correlation exists in the location of mutation in DMD gene or loss of different isoforms and cognitive impairment in children with DMD in the Indian population. Materials and Methods: Ten children were evaluated. Gene mutation analysis was done by multiplex ligation-dependent probe amplification method. The iso

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Hershkovich, Arielle, Erica F. Weiss, John McGinley, Diana Bronshteyn, David Masur, and Ronda Facchini. "A-278 Neuropsychological Profile of a Child with KCNQ2." Archives of Clinical Neuropsychology 37, no. 6 (2022): 1429. http://dx.doi.org/10.1093/arclin/acac060.278.

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Abstract Objective: The KCNQ2 gene mutations (KCNQ2), a known cause of neuronal potassium channel dysfunction in brain cells, causes susceptibility to seizures beginning within the first days of life. Seizure semiology, severity and cognitive sequela can vary depending on the type of KCNQ2 mutation. Cognitive impact ranges from moderate to severe; no known consistent presentation. KCNQ2 affects approximately 2.8 in 100,000 births: over 3,000 annual cases worldwide. We describe the neuropsychological findings of an 11-year-old female with a monoallelic mutation of the KCNQ2 gene, and history of

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Hallam, Bradley J., Claudia Jacova, Ging-Yuek R. Hsiung, et al. "Early Neuropsychological Characteristics of Progranulin Mutation Carriers." Journal of the International Neuropsychological Society 20, no. 7 (2014): 694–703. http://dx.doi.org/10.1017/s1355617714000551.

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AbstractMutations in the progranulin gene (GRN) are a common cause of familial frontotemporal dementia. We used a comprehensive neuropsychological battery to investigate whether early cognitive changes could be detected in GRN mutation carriers before dementia onset. Twenty-four at-risk members from six families with known GRN mutations underwent detailed neuropsychological testing. Group differences were investigated by domains of attention, language, visuospatial function, verbal memory, non-verbal memory, working memory and executive function. There was a trend for mutation carriers (n=8) t

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Zhang, Kang, Qing Liu, Keqiang Liu, et al. "ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia." Neurology Genetics 4, no. 3 (2018): e237. http://dx.doi.org/10.1212/nxg.0000000000000237.

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ObjectiveTo investigate the genetic contribution of ANXA11, a gene associated with amyotrophic lateral sclerosis (ALS), in Chinese ALS patients with and without cognitive dementia.MethodsSequencing all the coding exons of ANXA11 and intron-exon boundaries in 18 familial amyotrophic lateral sclerosis (FALS), 353 unrelated sporadic amyotrophic lateral sclerosis (SALS), and 12 Chinese patients with ALS-frontotemporal lobar dementia (ALS-FTD). The transcripts in peripheral blood generated from a splicing mutation were examined by reverse transcriptase PCR.ResultsWe identified 6 nonsynonymous heter

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Shiner, Tamara, Anat Mirelman, Yevgenia Rosenblum, et al. "The Effect of GBA Mutations and APOE Polymorphisms on Dementia with Lewy Bodies in Ashkenazi Jews." Journal of Alzheimer's Disease 80, no. 3 (2021): 1221–29. http://dx.doi.org/10.3233/jad-201295.

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Background: Glucocerebrosidase (GBA) gene mutations and APOE polymorphisms are common in dementia with Lewy bodies (DLB), however their clinical impact is only partially elucidated. Objective: To explore the clinical impact of mutations in the GBA gene and APOE polymorphisms separately and in combination, in a cohort of Ashkenazi Jewish (AJ) patients with DLB. Methods: One hundred consecutively recruited AJ patients with clinically diagnosed DLB underwent genotyping for GBA mutations and APOE polymorphisms, and performed cognitive and motor clinical assessments. Results: Thirty-two (32%) patie

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Rasic, Milic V., D. Vojinovic, J. Pesovic, et al. "Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation Location." Balkan Journal of Medical Genetics 17, no. 2 (2014): 25–35. http://dx.doi.org/10.2478/bjmg-2014-0071.

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Abstract Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy during childhood. Mutations in dystrophin (DMD) gene are also recognized as a cause of cognitive impairment. We aimed to determine the association between intelligence level and mutation location in DMD genes in Serbian patients with DMD. Forty-one male patients with DMD, aged 3 to 16 years, were recruited at the Clinic for Neurology and Psychiatry for Children and Youth in Belgrade, Serbia. All patients had defined DMD gene deletions or duplications [multiplex ligation- dependent probe amplification (MLPA

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Tsvetkov, Dmitry, Michael Hohmann, Yoland Marie Anistan, et al. "A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood." Clinical Medicine Insights: Case Reports 9 (January 2016): CCRep.S30867. http://dx.doi.org/10.4137/ccrep.s30867.

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Mutations in CD2-associated protein (CD2AP) have been identified in patients with focal segmental glomerulosclerosis (FSGS); however, reports of CD2AP mutations remain scarce. We performed Sanger sequencing in a patient with steroid-resistant FSGS and identified a heterozygous CD2AP mutation (p.T374A, c.1120 A > G). Our patient displayed mild cognitive decline, a phenotypic characteristic not previously associated with CD2AP-associated FSGS. His proteinuria was remarkably reduced by treatment with cyclosporine A. Our findings expand the genetic spectrum of CD2AP-associated disorders and bro

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BRANDT, JASON, BARNETT SHPRITZ, ANN MARIE CODORI, RUSSELL MARGOLIS, and ADAM ROSENBLATT. "Neuropsychological manifestations of the genetic mutation for Huntington's disease in presymptomatic individuals." Journal of the International Neuropsychological Society 8, no. 7 (2002): 918–24. http://dx.doi.org/10.1017/s1355617702870060.

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A triplet repeat (CAG) expansion mutation in the huntingtin gene on chromosome 4 is responsible for Huntington's disease (HD). Presymptomatic genetic testing for this mutation has identified clinically normal persons who are virtually certain to develop this dementing illness if they live a normal lifespan. The present study sought to determine whether these “mutation-positive” persons have impairments in cognitive functioning. Seventy-five mutation-positive persons did not differ from 128 mutation-negative persons on tests selected for their sensitivity to early-stage HD. Interestingly, howev

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Chamard, Ludivine, Sabrina Ferreira, Alexa Pijoff, Manon Silvestre, Eric Berger, and Eloi Magnin. "Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia." Behavioural Neurology 2016 (2016): 1–6. http://dx.doi.org/10.1155/2016/6423461.

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Objectives. To describe cognitive assessment including social cognition in SPG4 patients.Methods. We reported a series of nine patients with SPG4 mutation with an extensive neuropsychological examination including social cognition assessment.Results. None of our patients presented with mental retardation or dementia. All presented with mild cognitive impairment with a high frequency of attention deficit (100%), executive disorders (89%), and social cognition impairment (78%). An asymptomatic patient for motor skills presented with the same cognitive profile. No correlation was found in this sm

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Weston, Philip S. J., Teresa Poole, Natalie S. Ryan, et al. "Serum neurofilament light in familial Alzheimer disease." Neurology 89, no. 21 (2017): 2167–75. http://dx.doi.org/10.1212/wnl.0000000000004667.

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Objectives:To investigate whether serum neurofilament light (NfL) concentration is increased in familial Alzheimer disease (FAD), both pre and post symptom onset, and whether it is associated with markers of disease stage and severity.Methods:We recruited 48 individuals from families with PSEN1 or APP mutations to a cross-sectional study: 18 had symptomatic Alzheimer disease (AD) and 30 were asymptomatic but at 50% risk of carrying a mutation. Serum NfL was measured using an ultrasensitive immunoassay on the single molecule array (Simoa) platform. Cognitive testing and MRI were performed; 33 p

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Rocha, Ana Luísa, Andreia Costa, Maria Carolina Garrett, and Joana Meireles. "Difficult case of a rare form of familial Alzheimer’s disease with PSEN1 P117L mutation." BMJ Case Reports 11, no. 1 (2018): e226664. http://dx.doi.org/10.1136/bcr-2018-226664.

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Less than 10% of Alzheimer’s disease (AD) cases are familial. Presenilin-1 (PSEN1) mutations are the most frequent aetiology and may be associated to atypical neurological manifestations. We report the case of a 27-year-old right-handed man, ensuing with mild cognitive impairment, motor discoordination and axial myoclonus after a parachute accident. At age 32 he was referred to our neurology clinic, presenting cognitive impairment, cerebellar syndrome, axial myoclonus and hypomimia, without other signs of parkinsonism. Because of absence of family history, he was worked up along the line of sp

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Genis, David, Sara Ortega-Cubero, Hector San Nicolás, et al. "Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)." Neurology 91, no. 21 (2018): e1988-e1998. http://dx.doi.org/10.1212/wnl.0000000000006550.

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ObjectiveTo describe a new spinocerebellar ataxia (SCA48) characterized by early cerebellar cognitive-affective syndrome (CCAS) and late-onset SCA.MethodsThis is a descriptive study of a family that has been followed for more than a decade with periodic neurologic and neuropsychological examinations, MRI, brain SPECT perfusion, and genetic analysis. Whole exome sequencing was performed in 3 affected and 1 unaffected family member and subsequently validated by linkage analysis of chromosome 16p13.3.ResultsSix patients fully developed cognitive-affective and complete motor cerebellar syndrome as

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Moreno, Sonia, Omar Buriticá, Alejandro Franco, et al. "Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene." International Journal of Psychological Research 3, no. 2 (2010): 55–62. http://dx.doi.org/10.21500/20112084.812.

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In Antioquia, Colombia, four families have been reported with juvenile Parkinson´s disease and carrying the C212Y mutation in the Parkin gene. Many cognitive alterations associated with idiopathic, late-onset Parkinson´s disease have been described; however, little attention has been paid to the description of neuropsychological profiles in families carrying mutations in genes associated with juvenile Parkinson´s disease. For this study we selected a group of ten homozygous carriers of Parkin mutation C212Y with the clinical and a group of molecular diagnosis of Parkinson´s disease, and ten he

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Ahmed, Sarah, Monica Diez Fairen, Marya S. Sabir, et al. "MAPT p.V363I mutation." Neurology Genetics 5, no. 4 (2019): e347. http://dx.doi.org/10.1212/nxg.0000000000000347.

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ObjectivePatients with corticobasal syndrome (CBS) present with heterogeneous clinical features, including asymmetric parkinsonism, dyspraxia, aphasia, and cognitive impairment; to better understand the genetic etiology of this rare disease, we undertook a genetic analysis of microtubule-associated protein tau (MAPT).MethodsWe performed a genetic evaluation of MAPT mutations in 826 neurologically healthy controls and 173 cases with CBS using the Illumina NeuroChip genotyping array.ResultsWe identified 2 patients with CBS heterozygous for a rare mutation in MAPT (p.V363I) that is located in the

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Ford, Abaigeal M., Lauren E. Sather, Nadine A. Schwab, et al. "91 Investigation of Cognitive Differences in Pre-Symptomatic Known PRNP Mutation Carriers vs. Non-Carriers." Journal of the International Neuropsychological Society 29, s1 (2023): 82–83. http://dx.doi.org/10.1017/s1355617723001716.

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Objective:Prion disease is a rare, invariably fatal neurodegenerative disease characterized by rapid neuronal degeneration; Mutations to PRNP gene cause genetic prion disease (GPD). In animal models, microglial activation, astrocytosis, and release of neurofilament precede the onset of frank symptoms (Sorce & Nuvolone 2020, Minikel 2020). In humans at risk for GPD, prodromal pathology appears to occur in only a brief window prior to symptom onset (Vallabh et al. 2020, Thompson et al. 2021), but some data suggest that known PRNP mutation carriers may exhibit cognitive abnormalities prior to

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Sun, Chong, Jie Song, Yanjun Jiang, et al. "Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes." Neurology Genetics 5, no. 2 (2019): e565. http://dx.doi.org/10.1212/nxg.0000000000000316.

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ObjectiveTo expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.MethodsWhole-exome sequencing was performed on index patients from 4 unrelated families with leukoencephalopathy. Candidate pathogenic variants and their cosegregation were confirmed by Sanger sequencing. Effects of mutations on KARS protein function were examined by aminoacylation assays and yeast complementation assays.ResultsCommon clinical features of the patients

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Irfannudin, Irfannudin. "Biomolecular Characteristics of Amyloid Precursor Protein Mutations As Causes of Alzheimer's Disease Analyzed Through Bioinformatics Media." SRIWIJAYA JOURNAL OF MEDICINE 1, no. 1 (2018): 61–73. http://dx.doi.org/10.32539/sjm.v1i1.9.

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Methods of biomolecular analysis on protein through bioinformatics media has been growing rapidly. This report is intended to describe the results of biomolecular amyloid precursor protein (APP) analysis and the characteristic change of APP mutations causing cognitive degeneration disorder through bioinformatics media and search to reliable biomolecular sites. APP is a transmembrane protein that is widely present in neuronal tissue. APP plays an important role for the formation of neuronal cells. The APP gene is located on the 21st chromosome that has 290,586 base pairs (bp) of 20 exons and 19

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Jakovcevski, Mira, and Geraldine Zimmer-Bensch. "Epigenetic function in neurodevelopment and cognitive impairment." Neuroforum 28, no. 1 (2021): 41–53. http://dx.doi.org/10.1515/nf-2021-0028.

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Abstract Brain development comprises a fine-tuned ensemble of molecular processes that need to be orchestrated in a very coordinated way throughout time and space. A wide array of epigenetic mechanisms, ranging from DNA methylation and histone modifications to noncoding RNAs, have been identified for their major role in guiding developmental processes such as progenitor proliferation, neuronal migration, and differentiation through precise regulation of gene expression programs. The importance of epigenetic processes during development is reflected by the high prevalence of neurodevelopmental

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Chen, Xiangyu, Sheng Deng, Hongbo Xu, et al. "Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL." Neurodegenerative Diseases 19, no. 1 (2019): 35–42. http://dx.doi.org/10.1159/000500166.

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Background: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal-dominant, inherited, systemic, vascular disorder primarily involving the small arteries. It is characterized by migraine, recurrent ischemic strokes, cognitive decline, and dementia. Mutations in the Notch receptor 3 gene (NOTCH3) and the HtrA serine peptidase 1 gene (HTRA1) are 2 genetic causes for CADASIL. The NOTCH3 gene, located on chromosome 19p13.12, is the most common disease-causing gene in CADASIL. Objective: To investigate genetic causes in 2 unrelated Han-

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Israel, Yonat, Aaron Lowenkamp, Michael Shokhen, et al. "Structural and Functional Analysis of the Human IQSEC2 S1474Qfs*133 Mutation." Biomolecules 15, no. 5 (2025): 635. https://doi.org/10.3390/biom15050635.

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IQSEC2 is a guanine nucleotide exchange factor that modulates synaptic transmission, the excitatory/inhibitor balance and memory consolidation. Pathogenic mutations in the IQSEC2 gene result in epilepsy, cognitive dysfunction and autism spectrum disorder. The most common de novo IQSEC2 mutation in the IQSEC2 gene, associated with a particularly severe phenotype in males as compared to other IQSEC2 mutations, is due to a frameshift mutation near the C terminus, resulting in an extension of the open reading frame [IQSEC2 S1474Qfs*133]. The objective of this study was to understand the pathophysi

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Pavisic, Ivanna M., Jennifer M. Nicholas, Antoinette O'Connor, et al. "Disease duration in autosomal dominant familial Alzheimer disease." Neurology Genetics 6, no. 5 (2020): e507. http://dx.doi.org/10.1212/nxg.0000000000000507.

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ObjectiveTo use survival modeling to estimate disease duration in autosomal dominant familial Alzheimer disease (ADAD) and ascertain whether factors influencing age at onset also affect survival.MethodsSymptomatic mutation carriers (201 presenilin 1 [PSEN1] and 55 amyloid precursor protein [APP]) from ADAD families referred to the Dementia Research Centre, between 1987 and 2019, were included. Survival was assessed with respect to age at onset, year of birth, APOE ε4 status, cognitive presentation, and sex using multilevel mixed-effects Weibull survival models. The contribution of mutation and

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Skufca Smrdel, Andreja Cirila, Anja Podlesek, Marija Skoblar Vidmar, et al. "Cognitive functioning in a cohort of high-grade glioma patients." Radiology and Oncology 57, no. 2 (2023): 201–10. http://dx.doi.org/10.2478/raon-2023-0009.

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Abstract Background High grade gliomas are associated with cognitive problems. The aim of the study was to investigate cognitive functioning in a cohort of patients with high grade glioma, according to isocitrate dehydrogenase (IDH) and methyl guanine methyl transferase (MGMT) status and other clinical characteristics. Patients and methods The patients with the high-grade glioma treated in Slovenia in given period of time were included in study. Postoperatively they completed neuropsychological assessment consisting of Slovenian Verbal Learning Test, Slovenian Controlled Oral Word Association

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Holm-Mercer, Leah, Peter Rudge, Thomas Coysh, et al. "A novel neurodegenerative disease with multi-system features." Journal of Neurology, Neurosurgery & Psychiatry 93, no. 9 (2022): e2.185. http://dx.doi.org/10.1136/jnnp-2022-abn2.39.

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Inherited prion diseases (IPD) are caused by mutations in the prion protein gene (PRNP) leading to accu- mulation of misfolded prion protein (PrP). Here we describe three novelPRNPmutations.A patient with gradually progressive cognitive decline, peripheral neuropathy, diarrhoea and autonomic dysfunction, starting in the 6th decade, whose father suffered a similar illness with neuropathology showing PrP-cerebral amyloid angiopathy, PrP-amyloid plaques and abundant tau disease with co-localising TDP-43, had a truncation mutation at codon 157.A missense mutation at codon 107 ofPRNPcausing an amin

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Navarro, Etiane, and Charles J. Golden. "A-151 Cognitive Impairment in Amyotrophic Lateral Sclerosis." Archives of Clinical Neuropsychology 36, no. 6 (2021): 1205. http://dx.doi.org/10.1093/arclin/acab062.169.

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Abstract Objective Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease caused by degeneration of the upper and lower motor neurons. This literature review examines the recurring etiology of cognitive impairments in ALS through empirical literature. The current study explores ALS across different subtypes and potential cognitive impairments. Two classifications are primarily examined ALS, and ALS with frontotemporal dementia (ALS-FTD). Involving three categories: familial inheritance pattern, genetic mutation, or sporadic. Neuropsychological studies affirm cognitive i

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Szpisjak, László, András Salamon, Viola L. Németh, et al. "Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient." Ideggyógyászati szemle 76, no. 1-2 (2023): 63–72. http://dx.doi.org/10.18071/isz.76.0063.

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Spinocerebellar ataxia type 48 (SCA48) is an autosomal dominantly inherited disease characterized by gait and limb ataxia, cerebellar dysarthria, cognitive impairment, psychiatric abnormalities and variable types of movement disorders. To date, more than 30 STUB1 gene (NM_005861.4) mutations have been described in the genetic background of SCA48. The aim of this short report was to demonstrate the first Hungarian SCA48 patient caused by a novel STUB1 missense mutation (c.788G>C, p.Arg263Pro). The characteristics of detailed neurological phenotype, brain MRI and genetic assessment are presen

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Southwell, Amber L., Holly B. Kordasiewicz, Douglas Langbehn, et al. "Huntingtin suppression restores cognitive function in a mouse model of Huntington’s disease." Science Translational Medicine 10, no. 461 (2018): eaar3959. http://dx.doi.org/10.1126/scitranslmed.aar3959.

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Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin (HTT) protein, resulting in acquisition of toxic functions. Previous studies have shown that lowering mutant HTT has the potential to be broadly beneficial. We previously identifiedHTTsingle-nucleotide polymorphisms (SNPs) tightly linked to the HD mutation and developed antisense oligonucleotides (ASOs) targeting HD-SNPs that selectively suppress mutant HTT. We tested allele-specific ASOs in a mouse model of HD. Both early and late treatment reduced cognitive and behavioral impa

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Sun, Yong, Yan-Jun Wei, and Ying Xing. "Vascular cognitive impairment associated with NOTCH3 Exon 33 mutation." Medicine 98, no. 34 (2019): e16920. http://dx.doi.org/10.1097/md.0000000000016920.

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Song, Jung-Kook, Young Ook Noh, and Jung Seok Lee. "Cognitive Profile of CADASIL Patients with R544C Notch3 Mutation." European Neurology 71, no. 5-6 (2014): 217–22. http://dx.doi.org/10.1159/000356199.

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Thaler, A., A. Mirelman, T. Gurevich, et al. "Lower cognitive performance in healthy G2019S LRRK2 mutation carriers." Neurology 79, no. 10 (2012): 1027–32. http://dx.doi.org/10.1212/wnl.0b013e3182684646.

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Moran, Eileen E., Cuiling Wang, Mindy Katz, et al. "Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers." Neurobiology of Aging 58 (October 2017): 239.e1–239.e7. http://dx.doi.org/10.1016/j.neurobiolaging.2017.06.010.

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Sewell, Kelsey R., James D. Doecke, Ralph N. Martins, et al. "Longitudinal associations between self‐reported exercise levels and cognition in ADAD." Alzheimer's & Dementia 21, no. 6 (2025). https://doi.org/10.1002/alz.70383.

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AbstractINTRODUCTIONThis study examined longitudinal associations between self‐reported exercise and cognition, with moderation by sex, in individuals with autosomal dominant Alzheimer's disease (ADAD) mutations. We also examined whether changes in exercise over time differed in ADAD mutation carriers versus non‐carriers in the years preceding first cognitive symptom onset.METHODSParticipants (n = 491) were ADAD mutation carriers (63%) and non‐carriers (37%) from the Dominantly Inherited Alzheimer Network aged 37.6 ± 11.1 years. Participants reported their average time partaking in various lei

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Moran, Eileen E., Susan B. Bressman, Roberto A. Ortega, et al. "Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers." Frontiers in Neurology 12 (February 26, 2021). http://dx.doi.org/10.3389/fneur.2021.635958.

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Mutations and variants in the glucocerebrosidase (GBA) gene are among the most common genetic risk factors for the development of Parkinson's disease (PD). Yet, penetrance is markedly reduced, and less is known about the burden of carrying a single mutation among those without diagnosed PD. Motor, cognitive, psychiatric, and olfactory functioning were assessed in 30 heterozygous GBA mutation carriers without PD (the majority of whom had mild GBA mutations) and 49 non-carriers without PD. Study focus was on domains affected in GBA mutation carriers with PD, as well as those previously shown to

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Neidigk, Daniel, Allie Linkous, and Rodney Guttmann. "Identifying genetic factors that increase cognitive reserve: A theoretical approach." Research Ideas and Outcomes 9 (August 11, 2023). http://dx.doi.org/10.3897/rio.9.e107939.

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Studies have demonstrated that some individuals display pathological hallmarks of Alzheimer's disease (AD) but are not afflicted with cognitive decline. The ability to maintain cognitive function despite the presence of pathology is referred to as cognitive reserve. This project aims to identify the molecular pathways involved in cognitive reserve using Drosophila melanogaster (Drosophila) models of AD. Specifically, a theoretical approach using experimental evolution to drive a population of AD-like Drosophila carrying a tau mutation to develop cognitive reserve is proposed. To accomplish thi

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Rhyu, Jee-Min, Joonhong Park, Byoung-Soo Shin, et al. "A Novel c.800G>C Variant of the ITM2B Gene in Familial Korean Dementia." Journal of Alzheimer's Disease, April 4, 2023, 1–7. http://dx.doi.org/10.3233/jad-230051.

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Mutations in ITM2B have been reported to be associated with several familial dementias, such as Familial British dementia and familial Danish dementia. These are autosomal dominant disorders characterized by progressive dementia with an onset at around the fifth decade of life. We describe a family with cognitive impairment caused by a novel ITM2B p.*267Serext*11 mutation. The probands presented with cognitive impairment and cerebral infarction. MRI revealed diffuse white matter hyperintensity and microbleeds. Amyloid deposition was not observed on amyloid positron emission tomography. Our cas

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Li, Chuan, Qi Yan, Feng-ju Duan, et al. "Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series." BMC Neurology 21, no. 1 (2021). http://dx.doi.org/10.1186/s12883-020-02040-4.

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Abstract Background SPG11 mutation-related autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is the most common cause in complicated forms of HSP, usually presenting comprehensive mental retardation on early-onset stage preceding spastic paraplegias in childhood. However, there are many instances of sporadic late-onset HSP-TCC cases with a negative family history, and potential mild cognitive deficits in multiple domains may be easily neglected and inaccurately described. Methods In this study, we performed next generation sequencing in four sporadic late-on

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Li, Chuan, Qi Yan, Feng-ju Duan, et al. "Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series." BMC Neurology 21, no. 1 (2021). http://dx.doi.org/10.1186/s12883-020-02040-4.

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Abstract Background SPG11 mutation-related autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is the most common cause in complicated forms of HSP, usually presenting comprehensive mental retardation on early-onset stage preceding spastic paraplegias in childhood. However, there are many instances of sporadic late-onset HSP-TCC cases with a negative family history, and potential mild cognitive deficits in multiple domains may be easily neglected and inaccurately described. Methods In this study, we performed next generation sequencing in four sporadic late-on

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Gonzalez, Maria Camila, Linn Oftedal, Johannes Lange, et al. "Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD." Annals of Clinical and Translational Neurology, March 6, 2025. https://doi.org/10.1002/acn3.52295.

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AbstractObjectiveDementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive indicators, providing valuable insights into the likelihood of cognitive decline within these diagnoses. Our objective was to determine their association with cognitive decline in DLB and PD.MethodsA total of 121 DLB patients from the European‐DLB Co

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van Dort, Rosemarie, Kanishk Kaushik, Ingeborg Rasing, et al. "Cognition in (pre)symptomatic Dutch‐type hereditary and sporadic cerebral amyloid angiopathy." Alzheimer's & Dementia, October 10, 2024. http://dx.doi.org/10.1002/alz.14171.

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AbstractINTRODUCTIONCerebral amyloid angiopathy (CAA) is a main cause of cognitive dysfunction in the elderly. We investigated specific cognitive profiles, cognitive function in the stage before intracerebral hemorrhage (ICH), and the association between magnetic resonance imaging (MRI) based cerebral small vessel disease (cSVD) burden in CAA because data on these topics are limited.METHODSWe included Dutch‐type hereditary CAA (D‐CAA) mutation carriers with and without ICH, patients with sporadic CAA (sCAA), and age‐matched controls. Cognition was measured with a standardized test battery. Lin

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Pan, Xingxin, Zeynep H. Coban Akdemir, Ruixuan Gao, et al. "AD-Syn-Net: systematic identification of Alzheimer’s disease-associated mutation and co-mutation vulnerabilities via deep learning." Briefings in Bioinformatics, February 8, 2023. http://dx.doi.org/10.1093/bib/bbad030.

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Abstract Alzheimer’s disease (AD) is one of the most challenging neurodegenerative diseases because of its complicated and progressive mechanisms, and multiple risk factors. Increasing research evidence demonstrates that genetics may be a key factor responsible for the occurrence of the disease. Although previous reports identified quite a few AD-associated genes, they were mostly limited owing to patient sample size and selection bias. There is a lack of comprehensive research aimed to identify AD-associated risk mutations systematically. To address this challenge, we hereby construct a large

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Moon, Won-Jin, Changmok Lim, Il Heon Ha, et al. "Hippocampal blood–brain barrier permeability is related to the APOE4 mutation status of elderly individuals without dementia." Journal of Cerebral Blood Flow & Metabolism, September 16, 2020, 0271678X2095201. http://dx.doi.org/10.1177/0271678x20952012.

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Blood–brain barrier (BBB) disruption, modulated by APOE4 mutation, is implicated in the pathogenesis of cognitive decline. We determined whether BBB permeability differed according to cognitive functioning and APOE4 status in elderly subjects without dementia. In this prospective study, 33 subjects with mild cognitive impairment (MCI) and 33 age-matched controls (normal cognition [NC]) underwent 3 T brain magnetic resonance imaging. The Patlak model was used to calculate tissue permeability (Ktrans). A region-of interest analysis of Ktrans was performed to compare relevant brain regions. Effec

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Behler, Anna, Antje Knehr, Julia Finsel, et al. "Eye movement alterations in presymptomatic C9orf72 expansion gene carriers." Journal of Neurology, March 11, 2021. http://dx.doi.org/10.1007/s00415-021-10510-z.

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Abstract Objective The clinical manifestation of amyotrophic lateral sclerosis (ALS) is characterized by motor neuron degeneration, whereas frontotemporal dementia (FTD) patients show alterations of behavior and cognition. Both share repeat expansions in C9orf72 as the most prevalent genetic cause. Before disease-defining symptoms onset, structural and functional changes at cortical level may emerge in C9orf72 carriers. Here, we characterized oculomotor parameters and their association to neuropsychological domains in apparently asymptomatic individuals with mutations in ALS/FTD genes. Patient

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Hua, Ping, Yuwen Zhao, Qian Zeng, et al. "Genetic Analysis of Patients With Early-Onset Parkinson’s Disease in Eastern China." Frontiers in Aging Neuroscience 14 (May 11, 2022). http://dx.doi.org/10.3389/fnagi.2022.849462.

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BackgroundGenetic factors play an important role in the pathogenesis of early-onset Parkinson’s disease (EOPD). To date, more than 20 pathogenic genes associated with Parkinson’s disease (PD) have been identified. This study aims to explore the mutation spectrum of EOPD and the clinical characteristics of mutation carriers in eastern China.MethodsWe recruited 155 unrelated EOPD patients, including 8 familial and 147 sporadic EOPD (age at onset ≤ 50 years). Overall, 24 known PD-associated genes were detected by whole exome sequencing and multiplex ligation-dependent probe amplification (MLPA) f

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Langella, Stephanie, N. Gil Barksdale, Daniel Vasquez, et al. "Effect of apolipoprotein genotype and educational attainment on cognitive function in autosomal dominant Alzheimer’s disease." Nature Communications 14, no. 1 (2023). http://dx.doi.org/10.1038/s41467-023-40775-z.

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AbstractAutosomal dominant Alzheimer’s disease (ADAD) is genetically determined, but variability in age of symptom onset suggests additional factors may influence cognitive trajectories. Although apolipoprotein E (APOE) genotype and educational attainment both influence dementia onset in sporadic AD, evidence for these effects in ADAD is limited. To investigate the effects of APOE and educational attainment on age-related cognitive trajectories in ADAD, we analyzed data from 675 Presenilin-1 E280A mutation carriers and 594 non-carriers. Here we show that age-related cognitive decline is accele

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Castro, Jesús Garcia, Sara Rubio‐Guerra, Judit Selma González, et al. "Influence of biological sex on early cognitive performance in FTLD mutation carriers: an ALLFTD study." Alzheimer's & Dementia 20, S2 (2024). https://doi.org/10.1002/alz.088312.

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AbstractBackgroundAccumulating evidence indicates that biological sex may influence clinical manifestation within the spectrum of frontotemporal lobar degeneration (FTLD), implying differences in cognitive reserve. Nonetheless, investigations into the impact of biological sex during the preclinical and minimally symptomatic stages of FTLD are lacking.MethodWe included 275 mutation carriers (158 females; 127 with C9orf72, 68 with GRN, and 80 with MAPT mutations) and 161 non‐carrier familial controls (97 females) from the ALLFTD Consortium (Staffaroni et al., Nat Medicine 2022). Participants und

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Lado, Wudu, Ahrom Ham, Hongyu Li, et al. "Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation." Brain, November 20, 2024. http://dx.doi.org/10.1093/brain/awae380.

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Abstract Cognitive impairment is a common but poorly understood non-motor aspect of Parkinson’s disease, negatively affecting patient’s functional capacity and quality of life. The mechanisms underlying cognitive impairment in Parkinson’s disease are still elusive, limiting treatment and prevention strategies. This study investigates the molecular and cellular basis of cognitive impairment associated with heterozygous mutations in GBA1, the strongest risk gene for Parkinson’s disease that encodes glucocerebrosidase (GCase), a lysosome enzyme that degrades the glycosphingolipid glucosylceramide

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Giudicessi, Averi, Celina Pluim McDowell, Jairo E. Martinez, et al. "Cognitive Outcomes in Autosomal-Dominant Alzheimer’s Disease: A Comprehensive Review from a Colombian Kindred with the Presenilin-1 E280A Mutation." Journal of Alzheimer's Disease, August 30, 2024, 1–19. http://dx.doi.org/10.3233/jad-240360.

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Background: The largest identified kindred worldwide with a single mutation causing autosomal-dominant Alzheimer’s disease (ADAD) is a family from Antioquia, Colombia, carrying the Presenilin-1 (PSEN1) E280A (Paisa) mutation. The majority of mutation carriers develop dementia, typically commencing in their late 30 s, with a median onset age of 49 years. Cognitive decline is a hallmark feature. Objective: This review synthesizes the existing literature on neuropsychological assessments in PSEN1 E280A mutation carriers throughout their lifespan. We provide a comprehensive overview of cognitive o

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